Incidental Mutation 'R2041:Akap12'
ID |
224944 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akap12
|
Ensembl Gene |
ENSMUSG00000038587 |
Gene Name |
A kinase anchor protein 12 |
Synonyms |
Tsga12, Srcs5, SSeCKS |
MMRRC Submission |
040048-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R2041 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
4216380-4309470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 4306489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 1100
(P1100S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150261
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045730]
[ENSMUST00000215696]
|
AlphaFold |
Q9WTQ5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045730
AA Change: P1205S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000035829 Gene: ENSMUSG00000038587 AA Change: P1205S
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
48 |
N/A |
INTRINSIC |
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
low complexity region
|
151 |
171 |
N/A |
INTRINSIC |
low complexity region
|
187 |
198 |
N/A |
INTRINSIC |
internal_repeat_1
|
212 |
279 |
3.2e-5 |
PROSPERO |
coiled coil region
|
304 |
331 |
N/A |
INTRINSIC |
low complexity region
|
387 |
398 |
N/A |
INTRINSIC |
low complexity region
|
407 |
424 |
N/A |
INTRINSIC |
low complexity region
|
432 |
446 |
N/A |
INTRINSIC |
low complexity region
|
497 |
526 |
N/A |
INTRINSIC |
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
low complexity region
|
571 |
582 |
N/A |
INTRINSIC |
Pfam:WSK
|
591 |
619 |
2e-15 |
PFAM |
low complexity region
|
626 |
637 |
N/A |
INTRINSIC |
low complexity region
|
673 |
684 |
N/A |
INTRINSIC |
low complexity region
|
700 |
711 |
N/A |
INTRINSIC |
Pfam:WSK
|
738 |
766 |
2.3e-15 |
PFAM |
Pfam:WSK
|
779 |
807 |
6.2e-11 |
PFAM |
low complexity region
|
951 |
973 |
N/A |
INTRINSIC |
low complexity region
|
1050 |
1065 |
N/A |
INTRINSIC |
low complexity region
|
1177 |
1187 |
N/A |
INTRINSIC |
internal_repeat_1
|
1197 |
1265 |
3.2e-5 |
PROSPERO |
low complexity region
|
1303 |
1312 |
N/A |
INTRINSIC |
Pfam:RII_binding_1
|
1501 |
1518 |
4.2e-7 |
PFAM |
coiled coil region
|
1651 |
1676 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215696
AA Change: P1100S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216139
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (61/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knockout allele disrupting all three common isoforms suffer from prostatic hyperplasia and focal dysplasia, and from delayed fertility. Mice homozygous for a gene trap allele exhibit enhanced cardiac function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
T |
A |
5: 144,982,211 (GRCm39) |
D265E |
probably damaging |
Het |
2610021A01Rik |
A |
G |
7: 41,275,403 (GRCm39) |
R369G |
possibly damaging |
Het |
Actr3b |
T |
C |
5: 25,965,128 (GRCm39) |
|
probably null |
Het |
Adamts12 |
A |
T |
15: 11,215,821 (GRCm39) |
M281L |
probably damaging |
Het |
Aipl1 |
T |
A |
11: 71,922,332 (GRCm39) |
M126L |
possibly damaging |
Het |
Alox8 |
T |
A |
11: 69,088,517 (GRCm39) |
H40L |
possibly damaging |
Het |
Anks1 |
T |
A |
17: 28,227,388 (GRCm39) |
F659L |
probably damaging |
Het |
Asxl3 |
G |
T |
18: 22,656,508 (GRCm39) |
R1506L |
probably benign |
Het |
Bicd2 |
A |
G |
13: 49,495,252 (GRCm39) |
T36A |
probably benign |
Het |
Ccar1 |
A |
T |
10: 62,601,827 (GRCm39) |
L448Q |
probably damaging |
Het |
Ccdc17 |
T |
G |
4: 116,456,789 (GRCm39) |
N497K |
probably damaging |
Het |
Chek2 |
T |
C |
5: 110,996,530 (GRCm39) |
I164T |
probably damaging |
Het |
Cntnap5c |
T |
C |
17: 58,411,765 (GRCm39) |
|
probably null |
Het |
Cntnap5c |
T |
A |
17: 58,505,984 (GRCm39) |
D669E |
probably benign |
Het |
Cpsf6 |
A |
G |
10: 117,195,033 (GRCm39) |
I482T |
probably damaging |
Het |
Csf3 |
C |
T |
11: 98,592,483 (GRCm39) |
S65L |
possibly damaging |
Het |
Dlc1 |
A |
G |
8: 37,049,922 (GRCm39) |
Y1049H |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,050,422 (GRCm39) |
D3048G |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 137,832,617 (GRCm39) |
|
probably benign |
Het |
Epb41l4b |
T |
C |
4: 57,084,070 (GRCm39) |
K195R |
probably damaging |
Het |
Epn1 |
T |
C |
7: 5,086,874 (GRCm39) |
S41P |
probably damaging |
Het |
Fam120a |
C |
A |
13: 49,051,243 (GRCm39) |
V721L |
probably benign |
Het |
Fchsd1 |
T |
A |
18: 38,100,729 (GRCm39) |
|
probably null |
Het |
Fer1l6 |
G |
A |
15: 58,430,155 (GRCm39) |
G194D |
probably damaging |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Fyb1 |
A |
C |
15: 6,674,268 (GRCm39) |
T635P |
possibly damaging |
Het |
Gpr153 |
A |
G |
4: 152,367,810 (GRCm39) |
S554G |
probably benign |
Het |
Grm1 |
A |
G |
10: 10,622,347 (GRCm39) |
F459L |
probably damaging |
Het |
H60c |
C |
T |
10: 3,209,972 (GRCm39) |
G105D |
probably damaging |
Het |
Ifnlr1 |
T |
A |
4: 135,433,148 (GRCm39) |
M528K |
possibly damaging |
Het |
Lama4 |
A |
T |
10: 38,945,987 (GRCm39) |
D790V |
probably damaging |
Het |
Mfsd13b |
T |
C |
7: 120,591,139 (GRCm39) |
|
probably benign |
Het |
Mis12 |
T |
A |
11: 70,916,132 (GRCm39) |
I55N |
probably damaging |
Het |
Morn1 |
T |
C |
4: 155,175,399 (GRCm39) |
Y103H |
probably damaging |
Het |
Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
Ndst3 |
C |
A |
3: 123,465,864 (GRCm39) |
G36V |
probably benign |
Het |
Nlrp4a |
T |
A |
7: 26,149,611 (GRCm39) |
M406K |
probably damaging |
Het |
Or4p18 |
T |
C |
2: 88,232,568 (GRCm39) |
T237A |
probably damaging |
Het |
Or51t4 |
T |
A |
7: 102,598,170 (GRCm39) |
V156E |
probably damaging |
Het |
Or5b106 |
A |
T |
19: 13,124,041 (GRCm39) |
|
probably benign |
Het |
Or7g32 |
A |
T |
9: 19,408,131 (GRCm39) |
D29V |
probably benign |
Het |
Or9m1 |
T |
C |
2: 87,733,141 (GRCm39) |
N293S |
probably damaging |
Het |
Pars2 |
A |
G |
4: 106,510,814 (GRCm39) |
T199A |
probably damaging |
Het |
Plcb4 |
C |
T |
2: 135,780,191 (GRCm39) |
T172I |
probably damaging |
Het |
Pomgnt2 |
A |
T |
9: 121,811,354 (GRCm39) |
W476R |
probably benign |
Het |
Psg23 |
T |
A |
7: 18,348,703 (GRCm39) |
S35C |
possibly damaging |
Het |
Pycr3 |
T |
A |
15: 75,791,144 (GRCm39) |
|
probably null |
Het |
Rab3gap1 |
T |
C |
1: 127,865,727 (GRCm39) |
V764A |
possibly damaging |
Het |
Rgs2 |
A |
G |
1: 143,877,960 (GRCm39) |
F80S |
probably damaging |
Het |
Sall1 |
A |
G |
8: 89,759,429 (GRCm39) |
L225P |
probably benign |
Het |
Setd3 |
A |
G |
12: 108,079,651 (GRCm39) |
I284T |
possibly damaging |
Het |
Slc4a9 |
C |
T |
18: 36,663,846 (GRCm39) |
T290I |
possibly damaging |
Het |
Tmem87b |
T |
C |
2: 128,673,509 (GRCm39) |
V251A |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,525,294 (GRCm39) |
L39P |
probably damaging |
Het |
Ubr2 |
C |
A |
17: 47,296,973 (GRCm39) |
R269L |
probably damaging |
Het |
Vrk2 |
A |
T |
11: 26,497,914 (GRCm39) |
I90K |
probably benign |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp984 |
A |
T |
4: 147,839,796 (GRCm39) |
C352S |
probably damaging |
Het |
|
Other mutations in Akap12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00712:Akap12
|
APN |
10 |
4,357,164 (GRCm38) |
missense |
probably benign |
0.09 |
IGL01306:Akap12
|
APN |
10 |
4,303,273 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01360:Akap12
|
APN |
10 |
4,307,537 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01455:Akap12
|
APN |
10 |
4,306,886 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01458:Akap12
|
APN |
10 |
4,304,060 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01465:Akap12
|
APN |
10 |
4,306,886 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02348:Akap12
|
APN |
10 |
4,304,722 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02425:Akap12
|
APN |
10 |
4,306,034 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02502:Akap12
|
APN |
10 |
4,303,163 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02736:Akap12
|
APN |
10 |
4,305,637 (GRCm39) |
missense |
probably benign |
|
IGL02969:Akap12
|
APN |
10 |
4,304,864 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03345:Akap12
|
APN |
10 |
4,306,697 (GRCm39) |
missense |
probably benign |
0.42 |
ANU23:Akap12
|
UTSW |
10 |
4,303,273 (GRCm39) |
missense |
probably benign |
0.04 |
FR4976:Akap12
|
UTSW |
10 |
4,303,837 (GRCm39) |
small insertion |
probably benign |
|
R0004:Akap12
|
UTSW |
10 |
4,303,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R0004:Akap12
|
UTSW |
10 |
4,303,218 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0207:Akap12
|
UTSW |
10 |
4,303,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0580:Akap12
|
UTSW |
10 |
4,304,741 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0675:Akap12
|
UTSW |
10 |
4,303,315 (GRCm39) |
missense |
probably benign |
0.06 |
R1248:Akap12
|
UTSW |
10 |
4,303,847 (GRCm39) |
missense |
probably benign |
0.11 |
R1338:Akap12
|
UTSW |
10 |
4,263,773 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1448:Akap12
|
UTSW |
10 |
4,305,475 (GRCm39) |
missense |
probably benign |
0.22 |
R1458:Akap12
|
UTSW |
10 |
4,303,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R1521:Akap12
|
UTSW |
10 |
4,304,804 (GRCm39) |
missense |
probably benign |
0.02 |
R1585:Akap12
|
UTSW |
10 |
4,303,640 (GRCm39) |
missense |
probably benign |
0.11 |
R1725:Akap12
|
UTSW |
10 |
4,303,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R1756:Akap12
|
UTSW |
10 |
4,307,574 (GRCm39) |
missense |
probably benign |
0.04 |
R1914:Akap12
|
UTSW |
10 |
4,306,685 (GRCm39) |
missense |
probably benign |
0.01 |
R1978:Akap12
|
UTSW |
10 |
4,263,855 (GRCm39) |
missense |
probably benign |
0.06 |
R2032:Akap12
|
UTSW |
10 |
4,306,673 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3009:Akap12
|
UTSW |
10 |
4,307,891 (GRCm39) |
missense |
probably benign |
0.06 |
R3872:Akap12
|
UTSW |
10 |
4,307,590 (GRCm39) |
missense |
probably benign |
0.00 |
R3874:Akap12
|
UTSW |
10 |
4,307,590 (GRCm39) |
missense |
probably benign |
0.00 |
R3875:Akap12
|
UTSW |
10 |
4,307,590 (GRCm39) |
missense |
probably benign |
0.00 |
R3944:Akap12
|
UTSW |
10 |
4,307,347 (GRCm39) |
missense |
probably benign |
0.00 |
R4612:Akap12
|
UTSW |
10 |
4,304,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R4889:Akap12
|
UTSW |
10 |
4,306,535 (GRCm39) |
missense |
probably damaging |
0.97 |
R5043:Akap12
|
UTSW |
10 |
4,305,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R5176:Akap12
|
UTSW |
10 |
4,303,947 (GRCm39) |
missense |
probably benign |
0.19 |
R5278:Akap12
|
UTSW |
10 |
4,304,792 (GRCm39) |
missense |
probably benign |
0.02 |
R5320:Akap12
|
UTSW |
10 |
4,307,291 (GRCm39) |
missense |
probably benign |
0.00 |
R5443:Akap12
|
UTSW |
10 |
4,305,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R5533:Akap12
|
UTSW |
10 |
4,307,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R6133:Akap12
|
UTSW |
10 |
4,305,178 (GRCm39) |
missense |
probably benign |
0.05 |
R6142:Akap12
|
UTSW |
10 |
4,263,740 (GRCm39) |
splice site |
probably null |
|
R6190:Akap12
|
UTSW |
10 |
4,306,268 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6458:Akap12
|
UTSW |
10 |
4,305,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R6562:Akap12
|
UTSW |
10 |
4,306,141 (GRCm39) |
nonsense |
probably null |
|
R6701:Akap12
|
UTSW |
10 |
4,305,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R6828:Akap12
|
UTSW |
10 |
4,304,606 (GRCm39) |
missense |
probably damaging |
0.96 |
R6991:Akap12
|
UTSW |
10 |
4,307,122 (GRCm39) |
nonsense |
probably null |
|
R7023:Akap12
|
UTSW |
10 |
4,306,895 (GRCm39) |
missense |
probably benign |
0.05 |
R7102:Akap12
|
UTSW |
10 |
4,303,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Akap12
|
UTSW |
10 |
4,303,967 (GRCm39) |
missense |
probably benign |
0.00 |
R7538:Akap12
|
UTSW |
10 |
4,303,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R7664:Akap12
|
UTSW |
10 |
4,303,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R7704:Akap12
|
UTSW |
10 |
4,306,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R8447:Akap12
|
UTSW |
10 |
4,306,289 (GRCm39) |
missense |
probably benign |
0.32 |
R8502:Akap12
|
UTSW |
10 |
4,263,856 (GRCm39) |
missense |
probably benign |
0.22 |
R8910:Akap12
|
UTSW |
10 |
4,263,822 (GRCm39) |
missense |
probably benign |
|
R8946:Akap12
|
UTSW |
10 |
4,304,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R9003:Akap12
|
UTSW |
10 |
4,306,744 (GRCm39) |
missense |
probably benign |
0.32 |
R9237:Akap12
|
UTSW |
10 |
4,307,231 (GRCm39) |
missense |
probably benign |
|
R9347:Akap12
|
UTSW |
10 |
4,303,640 (GRCm39) |
missense |
probably benign |
0.11 |
R9428:Akap12
|
UTSW |
10 |
4,303,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R9734:Akap12
|
UTSW |
10 |
4,305,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGGAAGTACTCCCCTCGC -3'
(R):5'- CACTGTCACGTGTCAAGTCAG -3'
Sequencing Primer
(F):5'- GGAAGTACTCCCCTCGCAGATTC -3'
(R):5'- TCACGTGTCAAGTCAGCAGTC -3'
|
Posted On |
2014-08-25 |